A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.850
Abstract: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. read more here.
Keywords: mutation linked; novel mutation; congenital deafness; linked recessive ... See more keywords
Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.967
Abstract: X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset. Herein, we describe a male neonate from an ethnic Han Chinese family who presented with… read more here.
Keywords: congenital deafness; identifies donor; exome sequencing; donor splice ... See more keywords
Functional and structural brain connectivity in congenital deafness
Sign Up to like & getrecommendations! Published in 2021 at "Brain Structure and Function"
DOI: 10.1007/s00429-021-02243-6
Abstract: Several studies have been carried out to verify neural plasticity and the language process in deaf individuals. However, further investigations regarding the intrinsic brain organization on functional and structural neural networks derived from congenital deafness… read more here.
Keywords: congenital deafness; functional structural; connectivity; language ... See more keywords
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0745-1
Abstract: Purpose Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce this technology safely and effectively. We investigated the choices made by a diverse group of parents with… read more here.
Keywords: congenital deafness; exome sequencing; analysis; genomic newborn ... See more keywords
Visuospatial and Tactile Working Memory in Individuals with Congenital Deafness.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of deaf studies and deaf education"
DOI: 10.1093/deafed/enab005
Abstract: Studies examining visuospatial working memory (WM) in individuals with congenital deafness have yielded inconsistent results, and tactile WM has rarely been examined. The current study examined WM span tasks in the two modalities among 20… read more here.
Keywords: congenital deafness; individuals congenital; visuospatial tactile; working memory ... See more keywords
A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-01055-5
Abstract: The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4… read more here.
Keywords: congenital deafness; triobp gene; deafness; family ... See more keywords